Aliases:This biomarker is also known as:
- patched domain-containing protein 1,
- patched domain containing 1,
PTCHD1 is a membrane protein with a patched domain that is similar to Drosophila proteins which act as receptors for the morphogen sonic hedgehog. Deletions in the PTCHD1 gene, which is located on the X chromosome, are associated with intellectual disability and autism spectrum disorder.
There are no datasets associated with this biomarker.
The following organs have data associated with this biomarker…
|QA State:||Under Review|
No additional breast data available.
PTCHD1 was one of numerous potential early detection biomarkers specific to triple-negative breast cancer in multiple pathways identified.
- Discovery and preliminary confirmation of novel early detection biomarkers for triple-negative breast cancer using preclinical plasma samples from the Women's Health Initiative observational study.
- Plasma biomarker profiles differ depending on breast cancer subtype but RANTES is consistently increased.
- HGNC entry for PTCHD1 from Genenames
- KEGG entry for PTCHD1 from Genome.jp
- Entrez entry for PTCHD1 all NCBI Databasese
- Human GEO Profiles for PTCHD1 from NCBI GEO Profiles
- Human Geo Datasets containing term PTCHD1 from NCBI GEO Datasets
- GWAS Study Datasets containing gene PTCHD1 from GWAS
- Human Single Nucleotide Polymorphisms info for PTCHD1
- Human Gene(s) with 'PTCHD1' as Gene Name/Alias
- Human Gene RefSeq for PTCHD1 from NCBI
- GeneCards entry for human PTCHD1
- UniProtKB/Swiss-Prot entry for PTCHD1 from Uniprot
- Human Protein RefSeq for PTCHD1 from NCBI
- FDA web page describing approval of PTCHD1
|UniProt Accession #:||Q96NR3|
|Mutated Sites Count:||139|
|Associated Pubmed ID Count||0|
|Affected Protein Function Sites Count:||4|